Sarcoidosis Clinical Trial
Official title:
Shared Genetic Susceptibility in CBD and Sarcoidosis
Granulomatous lung diseases are diseases in which inflamed clusters of white cells, known as granulomas, form in lung tissue. Chronic beryllium disease (CBD) and sarcoidosis are two granulomatous diseases that share similar clinical symptoms, physiological changes in the lungs, and immune responses to the disease. Genetic variations may make some people more susceptible to developing CBD or sarcoidosis. This study will identify common genetic regions associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.
CBD and sarcoidosis are granulomatous lung diseases that are caused by an abnormal immune
response. While CBD is known to develop from exposure to the industrial product beryllium,
the cause of sarcoidosis remains undetermined. CBD occurs in 2 to 16% of people exposed to
beryllium and varies in severity of symptoms. People with sarcoidosis often show very minor
symptoms. However, certain variables have been associated with the more severe forms of
disease. These variables include black race, onset over the age of 40, involvement of more
than three affected organs, and presence of more serious lung disease. When serious symptoms
of sarcoidosis occur, clinical and pathological appearances of CBD and sarcoidosis are often
hard to distinguish. Symptoms common to both diseases include fever, chest pain, weight
loss, night sweats, fatigue, and presence of granulomas on the lungs. The fact that the
severity of both diseases varies greatly among those affected points to possible genetic
involvement. The genetic basis being analyzed in this study begins with the similar immune
responses in the development of both diseases, specifically involving human leukocyte
antigen (HLA) gene products. The purpose of this study is to identify common genetic regions
associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.
This study will utilize a novel technique, known as a genome-wide scan. The study will
examine previously collected DNA samples from participants in a previous NIH study, A Case
Control Etiologic Study of Sarcoidosis (ACCESS), and from participants with CBD recruited at
the National Jewish Medical and Research Center. Using the genome scans, researchers will
compare genetic regions of people with CBD versus people without CBD who have been exposed
to beryllium. The same approach will be used to define genetic regions associated with
sarcoidosis. Genome control methods will be used to account for population stratification in
both the CBD and sarcoidosis populations. Researchers will compare data between diseased and
healthy control groups and between CBD and sarcoidosis groups to identify shared genetic
regions relevant to disease development. A second genome scan involving two larger
populations of CBD and sarcoidosis cases and controls will be conducted to confirm the
association of these regions with both diseases.
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Observational Model: Case Control, Time Perspective: Retrospective
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